Revel Score:
ENST00000454036
0.967
ENST00000243964 (MANE Select)
0.967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46043294T>C , CM000682.2:g.46043294T>C | GRCh38 |
| NC_000020.10:g.44671933T>C , CM000682.1:g.44671933T>C | GRCh37 |
| NC_000020.9:g.44105340T>C | NCBI36 |
| NG_046341.1:g.26605T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.1208T>C MANE Select | ENSP00000243964.4:p.Leu403Pro | |
| ENST00000243964.6:c.1208T>C | ENSP00000243964.3:p.Leu403Pro | |
| ENST00000454036.6:c.1277T>C | ENSP00000387694.1:p.Leu426Pro | |
| ENST00000539566.3:c.510-2584T>C | ENSP00000446091.1:n.510-2584T>C | |
| ENST00000608594.2:n.102T>C | ||
| ENST00000616201.4:c.1208T>C | ENSP00000484585.1:p.Leu403Pro | |
| ENST00000616202.4:c.612+5909T>C | ENSP00000478369.1:n.612+5909T>C | |
| ENST00000616933.4:c.*526T>C | ENSP00000477569.1:n.*526T>C | |
| ENST00000626937.2:c.509+6012T>C | ENSP00000485953.1:n.509+6012T>C | |
| NM_001134771.1:c.1277T>C | NP_001128243.1:p.Leu426Pro | |
| NM_020708.4:c.1208T>C | NP_065759.1:p.Leu403Pro | |
| XM_017027981.1:c.1277T>C | XP_016883470.1:p.Leu426Pro | |
| NM_001134771.2:c.1277T>C | NP_001128243.1:p.Leu426Pro | |
| NM_020708.5:c.1208T>C MANE Select | NP_065759.1:p.Leu403Pro |